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42,267 research outcomes, page 1 of 4,227
  • publication . Article . 1973
    Closed Access
    Authors:
    Sly, William S.; Quinton, Barbara A.; McAlister, William H.; Rimoin, David L.;
    Persistent Identifiers
    Publisher: Elsevier BV

    Clinical, radiologic, and biochemical studies are presented of a patient with a previously undescribed mucopolysaccharide storage disease. Clinical features include short stuature, hepaosplenomegaly, progressive skeletal deformities of the thorax and spine, granular inc...

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  • publication . Article . 2005
    Closed Access
    Authors:
    Donald K. Strickland; Russell E. Ware; Thomas R. Kinney;
    Persistent Identifiers
    Publisher: Elsevier BV

    Although universal newborn screening can reliably identify all infants with sickle cell hemoglobinopathies, the initial screening result must not be considered the definitive diagnosis. We describe 23 infants whose screening phenotype was FS or FC but whose true phenoty...

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  • publication . Article . 2006
    Closed Access
    Authors:
    Robert Listernick; Joel Charrow; Mark J. Greenwald; Nancy B. Esterly;
    Persistent Identifiers
    Publisher: Elsevier BV

    To determine the frequency and natural history of tumors of the optic nerves and chlasm in patients with neurofibromatosis type 1, we obtained computed tomographic scans of 65 children who had no known visual or ocular abnormalities before their initial evaluation. Opti...

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  • publication . Article . 2006
    Closed Access
    Authors:
    R. Padoan; Antonio Brienza; Rosa Maria Crossignani; Giorgio Lodi; Annamaria Giunta; Baroukh M. Assael; Francesco Granata; Elda Passarella; Pier A. Vallaperta; Luigi Xerri;
    Persistent Identifiers
    Publisher: Elsevier BV

    The pharmacokinetics and clinical efficacy of ceftazidime, a cephalosporin with activity against Pseudomonas aeruginosa, were studied in children with cystic fibrosis. Ceftazidime had high in vitro activity against P. aeruginosa strains isolated from our patients, with ...

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  • publication . Article . 2006
    Closed Access
    Authors:
    Joel A. Brochstein; Brenda Shank; Nancy A. Kernan; Jerry W. Terwilliger; Richard J. O'Reilly;
    Persistent Identifiers
    Publisher: Elsevier BV

    A two-year-old girl with thrombocytopenia—absent radii syndrome underwent transplantation of allogeneic bone marrow from her histocompatible sibling to correct her persistently low platelet count. Six years after transplantation, she has durable engraftment of allogenei...

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  • publication . Article . 2015
    Open Access
    Authors:
    Elaine Kunzler; Christina Cernik; Joshua Weaver;
    Persistent Identifiers
    Publisher: Elsevier BV
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  • publication . Article . 2006
    Closed Access
    Authors:
    G.R. Fraser;
    Persistent Identifiers
    Publisher: Elsevier BV
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  • publication . Article . 2006
    Closed Access
    Authors:
    David J. Durand; Ronald I. Clyman; Michael A. Heymann; John A. Clements; Françoise Mauray; Joseph A. Kitterman; Philip L. Ballard;
    Persistent Identifiers
    Publisher: Elsevier BV

    We have created a totally synthetic, protein-free surfactant (Exosurf) composed of dipalmitoylphosphatidylcholine, hexadecanol, and tyloxapol. We studied the effects of endotracheal instillation of Exosurf on survival and pulmonary function of preterm lambs delivered at...

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  • publication . Article . 2006
    Closed Access
    Authors:
    Norman Nixon;
    Persistent Identifiers
    Publisher: Elsevier BV
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  • publication . Article . 2006
    Closed Access
    Authors:
    Harry Bakwin;
    Persistent Identifiers
    Publisher: Elsevier BV
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42,267 research outcomes, page 1 of 4,227